Hans Scheffer
Hans Scheffer
Assoc. Prof. Clinical Molecular Genetics, Radboudumc
Geverifieerd e-mailadres voor radboudumc.nl
TitelGeciteerd doorJaar
Diagnostic exome sequencing in persons with severe intellectual disability
J De Ligt, MH Willemsen, BWM Van Bon, T Kleefstra, HG Yntema, T Kroes, ...
New England Journal of Medicine 367 (20), 1921-1929, 2012
10932012
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez, M Saad, ...
Nature genetics 46 (9), 989, 2014
9532014
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
International Parkinson Disease Genomics Consortium
The Lancet 377 (9766), 641-649, 2011
7192011
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
G Van der Steege, PM Grootscholten, P Van der Vlies, TG Draaijers, ...
The Lancet 345 (8955), 985-986, 1995
4081995
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen, DBV De Bernabé, ...
Journal of medical genetics 42 (12), 907-912, 2005
3672005
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
X Estivill, C Bancells, C Ramos
Human mutation 10 (2), 135-154, 1997
3321997
Whole-genome sequencing in health care
CG Van El, MC Cornel, P Borry, RJ Hastings, F Fellmann, SV Hodgson, ...
European Journal of Human Genetics 21 (6), 580, 2013
3112013
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG van Engelen, ...
Brain 133 (3), 655-670, 2010
2702010
Next‐generation genetic testing for retinitis pigmentosa
K Neveling, RWJ Collin, C Gilissen, RAC van Huet, L Visser, MP Kwint, ...
Human mutation 33 (6), 963-972, 2012
2522012
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
BPC Van de Warrenburg, RJ Sinke, CC Verschuuren–Bemelmans, ...
Neurology 58 (5), 702-708, 2002
2522002
Guidelines for diagnostic next-generation sequencing
G Matthijs, E Souche, M Alders, A Corveleyn, S Eck, I Feenstra, V Race, ...
European Journal of Human Genetics 24 (1), 2, 2016
2412016
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ...
Human mutation 34 (12), 1721-1726, 2013
2342013
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
MF Jonkman, H Scheffer, R Stulp, HH Pas, M Nijenhuis, K Heeres, ...
Cell 88 (4), 543-551, 1997
2341997
Association between angiotensin-converting-enzyme gene polymorphism and failure of renoprotective therapy
GG van Essen, PL Rensma, D de Zeeuw, WJ Sluiter, AJ Apperloo, ...
The Lancet 347 (8994), 94-95, 1996
2291996
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations
E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ...
European Journal of Human Genetics 17 (1), 51, 2009
2272009
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
JM Cobben, G Van der Steege, P Grootscholten, M De Visser, H Scheffer, ...
American journal of human genetics 57 (4), 805, 1995
2161995
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy
K Nikopoulos, C Gilissen, A Hoischen, CE van Nouhuys, FN Boonstra, ...
The American Journal of Human Genetics 86 (2), 240-247, 2010
1942010
A cystic fibrosis mutation associated with mild lung disease
KH Gan, HJ Veeze, A van den Ouweland, D Halley, H Scheffer, ...
New England Journal of Medicine 333 (2), 95-99, 1995
1651995
Genome-wide association study confirms extant PD risk loci among the Dutch
J Simón-Sánchez, JJ Van Hilten, B Van De Warrenburg, B Post, ...
European Journal of Human Genetics 19 (6), 655, 2011
1632011
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
MA Van Es, HJ Schelhaas, PWJ Van Vught, N Ticozzi, PM Andersen, ...
Annals of neurology 70 (6), 964-973, 2011
1522011
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Artikelen 1–20